Table 1.

Summary of Major Disease Categories Represented by Variants Used in This Study.

Disease Category	Number of Studies	Number of SNPs	Distinct Diseases
Neoplasms	132	514	29
Cardiovascular diseases	86	370	24
Nervous system diseases	89	748	20
Digestive system diseases	84	376	19
Eye diseases	61	102	13
Musculoskeletal diseases	70	749	13
Mental disorders	73	1311	11
Nutritional and metabolic diseases	120	414	9
Female urogenital diseases and pregnancy complications	12	29	8
Skin and connective tissue diseases	58	795	6
Respiratory tract diseases	20	127	5
Hemic and lymphatic diseases	9	23	5
Otorhinolaryngologic diseases	3	21	3
Stomatognathic diseases	5	12	3
Bacterial infections and mycoses	3	18	3
Endocrine system diseases	2	15	2
Virus diseases	3	51	2

NOTE.—dSNPs used in this study were organized into high-level disease categories using the Medical Subject Headings (MeSH) annotating their associated disease phenotype in the VARIMED database. dSNPs were placed into top-level MeSH categories using the MeSH hierarchy. In cases where the dSNPs mapped to more than one top-level disease category, the dSNP was counted once in each category. If the dSNP phenotype did not have an associated MeSH annotation (37 dSNPs in this study), it was not represented in this table.